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CLRN1 Gene

protein-coding   GIFtS: 50
GCID: GC03M150643

Clarin 1

(Previous name: Usher syndrome 3A)
(Previous symbols: USH3, USH3A, RP61)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Clarin 11 2     Usher Syndrome Type-3 Protein2 3
USH3A1 2 3 5     Usher Syndrome 3A1
RP611 2 5     clarin-12
USH31 2 5     

External Ids:    HGNC: 126051   Entrez Gene: 74012   Ensembl: ENSG000001636467   OMIM: 6063975   UniProtKB: P584183   
ORGUL members:         

Export aliases for CLRN1 gene to outside databases

Previous GC identifers: GC03M152127 GC03M148017


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLRN1 Gene:
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an
endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in
development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with
Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLRN1 Gene:
CLRN1 (clarin 1) is a protein-coding gene. Diseases associated with CLRN1 include usher syndrome type 3a, and clrn1-related retinitis pigmentosa. An important paralog of this gene is ENSG00000260234.

UniProtKB/Swiss-Prot: CLRN1_HUMAN, P58418
Function: May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion
cells and presumably also in analogous synapses within the retina

Gene Wiki entry for CLRN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CLRN1 gene promoter:
         ATF-2   FOXO3   Nkx2-5   Tal-1beta   LCR-F1   FOXO3b   SRY   FOXO4   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLRN1 promoter sequence
   Search Chromatin IP Primers for CLRN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLRN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

CLRN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLRN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M150643:  view genomic region     (about GC identifiers)

Start:
150,643,950 bp from pter      End:
150,690,786 bp from pter
Size:
46,837 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CLRN1_HUMAN, P58418 (See protein sequence)
Recommended Name: Clarin-1  
Size: 232 amino acids; 25719 Da
Secondary accessions: D3DNJ3 E1ACU9 Q8N6A9
Alternative splicing: 3 isoforms:  P58418-3   P58418-1   P58418-4   

Explore the universe of human proteins at neXtProt for CLRN1: NX_P58418

Explore proteomics data for CLRN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn48

  • See CLRN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001182723.1  NP_001243748.1  NP_443721.1  NP_777367.1  

    ENSEMBL proteins: 
     ENSP00000295911   ENSP00000322280   ENSP00000419892   ENSP00000419244   ENSP00000329158  

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    Cloud-Clone Corp. CLIAs for CLRN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004031 PMP22/EMP/MP20/Claudin
     IPR026748 Clarin

    Graphical View of Domain Structure for InterPro Entry P58418

    ProtoNet protein and cluster: P58418

    UniProtKB/Swiss-Prot: CLRN1_HUMAN, P58418
    Similarity: Belongs to the clarin family


    CLRN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLRN1_HUMAN, P58418
    Function: May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion
    cells and presumably also in analogous synapses within the retina

    Phenotypes:
         1 GenomeRNAi human phenotype for CLRN1:

     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Clrn1):
     behavior/neurological  hearing/vestibular/ear  nervous system  no phenotypic analysis  vision/eye 

    CLRN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Clrn1tm1.1Kuna for CLRN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLRN1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLRN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLRN1

    miRNA
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    Block miRNA regulation of human, mouse, rat CLRN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLRN1 (see all 15):
    hsa-miR-30c hsa-miR-607 hsa-miR-875-3p hsa-miR-1237 hsa-miR-196a* hsa-miR-3065-5p hsa-miR-488 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidCLRN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CLRN1
    Predesigned siRNA for gene silencing in human, mouse, rat CLRN1

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLRN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLRN1_HUMAN, P58418: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA19423712
    GO:0005902microvillus IDA19423712
    GO:0016021integral component of membrane IEA--
    GO:0030027lamellipodium IDA19423712

    CLRN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLRN1
    Interactions:

        Search GeneGlobe Interaction Network for CLRN1

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization IDA19423712
    GO:0007601visual perception IEA--
    GO:0007605sensory perception of sound IMP15650299
    GO:0010592positive regulation of lamellipodium assembly IDA19423712
    GO:0045494photoreceptor cell maintenance IMP15521980

    CLRN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLRN1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLRN1 gene (5 alternative transcripts): 
    NM_001195794.1  NM_001256819.1  NM_052995.2  NM_174878.2  NM_174880.1  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295911(uc003eyj.3) ENST00000327047(uc021xfs.1 uc003eyk.1 uc021xft.1 uc021xfu.1 uc021xfv.1 uc021xfw.1)
    ENST00000468836 ENST00000485607 ENST00000472224 ENST00000328863
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CLRN1 (see all 15):
    hsa-miR-30c hsa-miR-607 hsa-miR-875-3p hsa-miR-1237 hsa-miR-196a* hsa-miR-3065-5p hsa-miR-488 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidCLRN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CLRN1
    Predesigned siRNA for gene silencing in human, mouse, rat CLRN1
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CLRN1
      QuantiFast Probe-based Assays in human, mouse, rat CLRN1

    13 AceView cDNA sequences:

    NM_174878 BM666773 NM_052995 AF388366 BC074971 NM_174880 BC074970 AF495717 
    BM694985 AF388368 BX491536 AF482697 W27577 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CLRN1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6
    SP1:                                -                 -           -         
    SP2:                    -     -     -                 -                     
    SP3:                                                                        
    SP4:                    -           -                                       
    SP5:                    -     -     -                                       


    ECgene alternative splicing isoforms for CLRN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLRN1 expression in normal human tissues (normalized intensities)      CLRN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATATATTT
    CLRN1 Expression
    About this image


    CLRN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer
    CLRN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLRN1 Protein Expression

    UniProtKB/Swiss-Prot: CLRN1_HUMAN, P58418
    Tissue specificity: Widely expressed. Found in the retina

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLRN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CLRN1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clrn11 , 5 clarin 11, 5 85.92(n)1
    88.79(a)1
      3 (28.78 cM)5
    2293201  NM_153385.31  NP_700434.11 
     588440285 
    chicken
    (Gallus gallus)
    Aves CLRN11 clarin 1 70.34(n)
    69.8(a)
      771718  XM_004943577.1  XP_004943634.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    3(18189005-18189274)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia clrn11 clarin 1 70.83(n)
    68.1(a)
      100497170  XM_002937101.2  XP_002937147.2 
    zebrafish
    (Danio rerio)
    Actinopterygii clrn11 clarin 1 63.79(n)
    60.78(a)
      436944  NM_001002671.1  NP_001002671.1 


    ENSEMBL Gene Tree for CLRN1 (if available)
    TreeFam Gene Tree for CLRN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLRN1 gene
    ENSG000002602342  CLRN32  CLRN22  
    1 SIMAP similar gene for CLRN1 using alignment to 5 protein entries:     CLRN1_HUMAN (see all proteins):
    CLRN2

    CLRN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLRN1 (see all 981)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0545554
    Usher syndrome 3A (USH3A)4--see VAR_0545552 C G mis40--------
    VAR_0545564
    Usher syndrome 3A (USH3A)4--see VAR_0545562 S P mis40--------
    VAR_0666734
    Retinitis pigmentosa 61 (RP61)4--see VAR_0666732 P L mis40--------
    VAR_0666744
    Retinitis pigmentosa 61 (RP61)4--see VAR_0666742 L W mis40--------
    VAR_0303454
    Usher syndrome 3A (USH3A)4--see VAR_0303452 N K mis40--------
    VAR_0122414
    Usher syndrome 3A (USH3A)4--see VAR_0122412 M K mis40--------
    VAR_0303464
    Usher syndrome 3A (USH3A)4--see VAR_0303462 L P mis40--------
    rs1219081401,2
    Cpathogenic1150626693(-) ACTTAG/TGTCTA 8 * Y stg1 ut310--------
    rs780685781,2
    C,F--150624265(+) ACACGT/ACTTGC 1 -- ds50011Minor allele frequency- A:0.09WA 118
    rs67636221,2
    C,F,A,H--150624301(+) CTAGGG/ATGATG 1 -- ds500122Minor allele frequency- A:0.22NA NS EA WA CSA 2356

    HapMap Linkage Disequilibrium report for CLRN1 (150643950 - 150690786 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CLRN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv275573CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): CLRN1
    Locus Specific Mutation Databases (LSDB): CLRN1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLRN1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606397   
    OMIM disorders: 276902  614180  
    UniProtKB/Swiss-Prot: CLRN1_HUMAN, P58418
  • Usher syndrome 3A (USH3A) [MIM:276902]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction,
    and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of
    central visual acuity, usually by the second decade of life. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Retinitis pigmentosa 61 (RP61) [MIM:614180]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 15 diseases for CLRN1:    About MalaCards
    usher syndrome type 3a    clrn1-related retinitis pigmentosa    retinitis pigmentosa 61    usher syndrome type 3
    usher syndrome    usher syndrome type ii    leber congenital amaurosis    pigmentary retinopathy
    rhyns syndrome    retinal disease    retinitis pigmentosa    retinitis
    blindness    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for CLRN1:
    Usher syndrome     Retinitis pigmentosa

    CLRN1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CLRN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 94.4 8 15521980 (2), 16545802 (1), 18281613 (1), 12145752 (1) (see all 5)

    Genetic Association Database (GAD): CLRN1
    Human Genome Epidemiology (HuGE) Navigator: CLRN1 (1 document)

    Export disorders for CLRN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLRN1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with CLRN1)
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    1. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. (PubMed id 15521980)1, 2, 9 Aller E.... Millan J.M. (Clin. Genet. 2004)
    2. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (PubMed id 12145752)1, 2, 9 Fields R.R.... Sumegi J. (Am. J. Hum. Genet. 2002)
    3. Alternative splice variants of the USH3A gene Clarin 1 (CLRN1). (PubMed id 20717163)1, 2 Vastinsalo H.... Sankila E.M. (Eur. J. Hum. Genet. 2011)
    4. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. (PubMed id 21310491)1, 2 Khan M.I.... den Hollander A.I. (Ophthalmology 2011)
    5. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (PubMed id 19683999)1, 4 Jaijo T....MillA!n J.M. (amp 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. (PubMed id 12080385)1, 2 Adato A.... Lancet D. (Eur. J. Hum. Genet. 2002)
    8. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (PubMed id 11524702)1, 2 Joensuu T.... Sankila E.-M. (Am. J. Hum. Genet. 2001)
    9. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. (PubMed id 8975700)1, 3 Joensuu T....Sankila E.M. (Genomics 1996)
    10. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. (PubMed id 7711740)1, 3 Sankila E.M....de la Chapelle A. (Hum. Mol. Genet. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7401 HGNC: 12605 AceView: USH3A Ensembl:ENSG00000163646 euGenes: HUgn7401
    ECgene: CLRN1 H-InvDB: CLRN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLRN1 Pharmacogenomics, SNPs, Pathways
    Mutations of the USH3A genehttp://www.retina-international.org/files/sci-news/ush3mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CLRN1[genesymbol]

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    Patent Information for CLRN1 gene:
    Search GeneIP for patents involving CLRN1

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